Kaplinsky C, Sternlieb I, Javitt N, Rotem Y
Pediatrics. 1980 Apr;65(4):782-8.
A brother and sister who suffered from pruritus since infancy developed hepatic cirrhosis early in life. Although this clinical picture has never been seen in Wilson's disease, Kayser-Fleischer rings in the boy made further studies necessary. Oral radiocopper loading tests administered to both children and to their parents served to exclude Wilson's disease conclusively. Determinations of the concentrations and patterns of bile acids in the serum indicated that the abnormalities observed in these children are not related to errors in bile acid synthesis. Although a defect in bile acid transport is present, it appears to have occurred as a consequence of the liver disease.
一名自婴儿期就患有瘙痒症的兄妹在早年就出现了肝硬化。虽然这种临床症状在威尔逊病中从未见过，但男孩的凯泽-弗莱施尔环使得进一步检查成为必要。对这两个孩子及其父母进行的口服放射性铜负荷试验最终排除了威尔逊病。血清中胆汁酸浓度和模式的测定表明，这些孩子中观察到的异常与胆汁酸合成错误无关。虽然存在胆汁酸转运缺陷，但这似乎是肝脏疾病的结果。
